GNAL
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | G protein subunit alpha L |
| EntrezGene | 2774 |
| PheGenI | 2774 |
| VariationViewer | 2774 |
| ClinVar | GNAL |
| GeneCards | GNAL |
| dbSNP | 2774 |
| Diseases | GNAL |
| SADR | 2774 |
| HugeNav | 2774 |
| wikipedia | GNAL |
| GNAL | |
| gopubmed | GNAL |
| EVS | GNAL |
| HEFalMp | GNAL |
| MyGene2 | GNAL |
| 23andMe | GNAL |
| UniProt | P38405 |
| Ensembl | ENSG00000141404 |
| OMIM | 139312 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519098 | 0 | 11,753,639 | |
| rs1064794741 | 0 | 11,881,049 | |
| rs398122923 | 0 | 11,824,933 | |
| rs398122924 | 0 | 11,872,345 | |
| rs398122925 | 0 | 11,824,987 | |
| rs398122926 | 0 | 11,753,835 | |
| rs398122927 | 0 | 11,864,577 | |
| rs398122928 | 0 | 11,752,494 | |
| rs602201 | 0 | 11,882,269 | |
| rs9947295 | 0 | 11,759,433 |
The GNAL gene on chromosome 18 encodes a stimulatory G-alpha subunit of the G protein receptor.
Heterozygous loss-of-function mutations in the GNAL gene are known to cause isolated dystonia. Patients with heterozygous GNAL mutations typically exhibit an adult-onset focal cervical, laryngeal, and/or segmental dystonia. Homozygous or compound heterozygous GNAL mutations are associated with familial childhood-onset generalized dystonia.[PMID 27222887
]
